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rs606231277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231277(-;-)
Make rs606231277(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position43253550
GeneTGM5
is asnp
is mentioned by
dbSNPrs606231277
dbSNP (classic)rs606231277
ClinGenrs606231277
ebirs606231277
HLIrs606231277
Exacrs606231277
Gnomadrs606231277
Varsomers606231277
LitVarrs606231277
Maprs606231277
PheGenIrs606231277
Biobankrs606231277
1000 genomesrs606231277
hgdprs606231277
ensemblrs606231277
geneviewrs606231277
scholarrs606231277
googlers606231277
pharmgkbrs606231277
gwascentralrs606231277
openSNPrs606231277
23andMers606231277
SNPshotrs606231277
SNPdbers606231277
MSV3drs606231277
GWAS Ctlgrs606231277
Max Magnitude0
ClinVar
Risk rs606231277(-;-)
Alt rs606231277(-;-)
Reference Rs606231277(C;C)
Significance Pathogenic
Disease Peeling skin syndrome
Variation info
Gene TGM5
CLNDBN Peeling skin syndrome, acral type
Reversed 1
HGVS NC_000015.9:g.43545748delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000144914.4,